Human genome sequencing highlights the involvement of genetic variation towards differential risk of human
diseases, presence of different phenotypes, and response to pharmacological elements. This brings the field of
personalized medicine to forefront in the era of modern health care. Numerous recent approaches have shown that how
variation in the genome at single nucleotide level can be used in pharmacological research. The two broad aspects that
deal with pharmacological research are pharmacogenetics and pharmacogenomics. This review encompasses how these
variations have created the basis of pharmacogenetics and pharmacogenomics research and important milestones accomplished
in these two fields in different diseases. It further discusses at length their importance in disease diagnosis,
response of drugs, and various treatment modalities on the basis of genetic determinants.
Keywords: Pharmacogenetics, pharmacogenomics, personalized medicine, monogenic disorder, polygenic disorder, genetic testing.
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